Evidence map›Paper›PMID 32888494›Full record

SynthesisCell2020

The Polygenic and Monogenic Basis of Blood Traits and Diseases.

Dragana Vuckovic, Erik L Bao, Parsa Akbari, Caleb A Lareau, Abdou Mousas, Tao Jiang, Ming-Huei Chen, Laura M Raffield, Manuel Tardaguila, Jennifer E Huffman and 103 more

Open access · hybridAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Cell, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 476 papers, 10 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
476citing papers in PubMed, 10 pooled it
76.7field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

476 citing papers in PubMed, 10 syntheses or guidelines pooled it, 719 citations in OpenAlex.

  1. Pooled it
  2. Genetic characterization of preschool wheeze phenotypes.The Journal of allergy and clinical immunology · 2025
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  8. Genome-Wide Search for Nonadditive Allele Effects IdentifiesJournal of the American Heart Association · 2024
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416 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

113 authors at 20 institutions in 14 countries.

Dragana VuckovicHuman Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK.
Erik L BaoDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA; Harvard-MIT Health Sciences and Technology, Harvard Medical School, Boston, MA, 02142, USA.
Parsa AkbariDepartment of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK; MRC Biostatistics Unit, University of Cambridge, Cambridge, CB2 0SR, UK; Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Caleb A LareauDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Abdou MousasMontreal Heart Institute, Montreal, Quebec, H1T 1C8, Canada.
Tao JiangDepartment of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge, CB2 0QQ, UK.
Ming-Huei ChenThe Framingham Heart Study, National Heart, Lung and Blood Institute, Framingham, MA, 01702, USA; Population Sciences Branch, Division of Intramural Research, National Heart, Lung and Blood Institute, Framingham, MA, 01702, USA.
Laura M RaffieldDepartment of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA.
Manuel TardaguilaHuman Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Jennifer E HuffmanCenter for Population Genomics, Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, 02130, USA.
Scott C RitchieDepartment of Public Health and Primary Care, Cambridge Baker Systems Genomics Initiative, University of Cambridge, Cambridge, CB1 8RN, UK; Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute, Melbourne, Victoria, VIC 3004, Australia; Department of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge, CB2 0QQ, UK.
Karyn MegyDepartment of Haematology, University of Cambridge, Cambridge, CB2 0PT, UK; National Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge, CB2 0PT, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, CB2 0PT, UK.
Hannes PonstinglHuman Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Christopher J PenkettNational Institute for Health Research (NIHR) BioResource, Cambridge University Hospitals, Cambridge, CB2 0PT, UK; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, UK.
Patrick K AlbersHuman Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Emilie M WigdorHuman Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Saori SakaueDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Osaka, 565-0871, Japan; Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, 230-0045, Japan.
Arden MoscatiIcahn School of Medicine at Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, New York, NY, 10029, USA.
Regina ManansalaZilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI, 53201, USA.
Ken Sin LoMontreal Heart Institute, Montreal, Quebec, H1T 1C8, Canada.
Huijun QianDepartment of Statistics and Operation Research, University of North Carolina, Chapel Hill, NC, 27599, USA.
Masato AkiyamaLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, 230-0045, Japan; Department of Ocular Pathology and Imaging Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, 812-8581, Japan.
Traci M BartzDepartment of Biostatistics, University of Washington, Seattle, WA, 98101, USA.
Yoav Ben-ShlomoPopulation Health Sciences, Bristol Medical School, University of Bristol, Bristol, BS8 1QU, UK.
Andrew BeswickTranslational Health Sciences, Musculoskeletal Research Unit, Bristol Medical School, University of Bristol, Bristol, BS10 5NB, UK.
Jette Bork-JensenNovo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark.
Erwin P BottingerHasso-Plattner-Institut, Universität Potsdam, Potsdam, 14469, Germany; Icahn School of Medicine at Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, New York, NY, 10029, USA.
Jennifer A BrodyDepartment of Medicine, University of Washington, Seattle, WA, 98101, USA.
Frank J A van RooijDepartment of Epidemiology, Erasmus University Medical Center Rotterdam, Rotterdam, 3015 GE, the Netherlands.
Kumaraswamy N ChitralaLaboratory of Epidemiology and Population Science, National Institute on Aging/NIH, Baltimore, MD, 21224, USA.
Peter W F WilsonAtlanta VA Medical Center, Decatur, GA, 30033, USA.
Hélène ChoquetDivision of Research, Kaiser Permanente Northern California, Oakland, CA, 94612, USA.
John DaneshDepartment of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, CB10 1SA, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK; Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge, CB2 0QQ, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge, CB1 8RN, UK.
Emanuele Di AngelantonioDepartment of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, CB10 1SA, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK; Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge, CB2 0QQ, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge, CB1 8RN, UK.
Niki DimouSection of Nutrition and Metabolism, International Agency for Research on Cancer, Lyon, 69008, France; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, 45110, Greece.
Jingzhong DingDepartment of Internal Medicine, Section of Gerontology and Geriatric Medicine, Wake Forest School of Medicine, Winston-Salem, NC, 27101, USA.
Paul ElliottDepartment of Epidemiology and Biostatistics, Imperial College London, London, W2 1PG, UK; Imperial Biomedical Research Centre, Imperial College London and Imperial College NHS Healthcare Trust, London, W2 1NY, UK; Medical Research Council Centre for Environment and Health, Imperial College London, London, W2 1PG, UK; UK Dementia Research Institute, Imperial College London, London, WC1E 6BT, UK; Health Data Research UK London, London, W2 1PG, UK.
Tõnu EskoBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.
Michele K EvansLaboratory of Epidemiology and Population Science, National Institute on Aging/NIH, Baltimore, MD, 21224, USA.
Stephan B FelixDepartment of Internal Medicine B, University Medicine Greifswald, Greifswald, 17475, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Greifswald, Greifswald, 17475, Germany.
James S FloydDepartment of Medicine, University of Washington, Seattle, WA, 98101, USA; Department of Epidemiology, University of Washington, Seattle, WA, 98101, USA.
Linda BroerDepartment of Internal Medicine, Erasmus University Medical Center Rotterdam, Rotterdam, 3015 GE, the Netherlands.
Niels GrarupNovo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark.
Michael H GuoBroad Institute of MIT and Harvard, Cambridge, MA, 02142, USA; Department of Neurology, University of Pennsylvania, Philadelphia, PA, 19104, USA.
Qi GuoDepartment of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK.
Andreas GreinacherInstitute for Immunology and Transfusion Medicine, University Medicine Greifswald, Greifswald, 17475, Germany.
Jeff HaesslerDivision of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, 98101, USA.
Torben HansenNovo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark.
Joanna M M HowsonDepartment of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge, CB2 0QQ, UK; Novo Nordisk Research Centre Oxford, Oxford, OX3 7FZ, UK.
Wei HuangDepartment of Genetics, Shanghai-MOST Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center and Shanghai Industrial Technology Institute (SITI), Shanghai, 201203, China.
Eric JorgensonDivision of Research, Kaiser Permanente Northern California, Oakland, CA, 94612, USA.
Tim KacprowskiInterfaculty Institute of Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, 17475, Germany; Chair of Experimental Bioinformatics, Research Group Computational Systems Medicine, Technical University of Munich, Freising-Weihenstephan, 85354, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Greifswald, Greifswald, 17475, Germany.
Mika KähönenDepartment of Clinical Physiology, Tampere University Hospital, Tampere, 33521, Finland; Department of Clinical Physiology, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, 33014, Finland.
Yoichiro KamataniLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, 230-0045, Japan; Laboratory of Complex Trait Genomics, Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, 108-8639, Japan.
Masahiro KanaiLaboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa, 230-0045, Japan; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA.
Savita KarthikeyanDepartment of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK.
Fotios KoskeridisDepartment of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, 45110, Greece.
Leslie A LangeDepartment of Medicine, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, 80045, USA.
Terho LehtimäkiDepartment of Clinical Chemistry, Fimlab Laboratories, Tampere, 33520, Finland; Department of Clinical Chemistry, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, 33014, Finland.
Allan LinnebergCenter for Clinical Research and Prevention, Bispebjerg and Frederiksberg Hospital, Frederiksberg, 2000, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark.
Yongmei LiuDepartment of Medicine, Division of Cardiology, Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, 27701, USA.
Leo-Pekka LyytikäinenDepartment of Clinical Chemistry, Fimlab Laboratories, Tampere, 33520, Finland; Department of Clinical Chemistry, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, 33014, Finland.
Ani ManichaikulCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, 22903, USA.
Koichi MatsudaDepartment of Computational Biology and Medical Sciences, Graduate school of Frontier Sciences, The University of Tokyo, Tokyo, 108-8639, Japan.
Karen L MohlkeDepartment of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA.
Nina MononenDepartment of Clinical Chemistry, Fimlab Laboratories, Tampere, 33520, Finland; Department of Clinical Chemistry, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, 33014, Finland.
Yoshinori MurakamiDivision of Molecular Pathology, The Institute of Medical Science, The University of Tokyo, Tokyo, 108-8639, Japan.
Girish N NadkarniIcahn School of Medicine at Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, New York, NY, 10029, USA.
Kjell NikusDepartment of Cardiology, Heart Center, Tampere University Hospital, Tampere, 33521, Finland; Department of Cardiology, Finnish Cardiovascular Research Center - Tampere, Faculty of Medicine and Health Technology, Tampere University, Tampere, 33014, Finland.
Nathan PankratzDepartment of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN, 55455, USA.
Oluf PedersenNovo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, 2200, Denmark.
Michael PreussIcahn School of Medicine at Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, New York, NY, 10029, USA.
Bruce M PsatyDepartments of Epidemiology, University of Washington, Seattle, WA, 98101, USA; Department of Medicine, University of Washington, Seattle, WA, 98101, USA; Department of Health Services, University of Washington, Seattle, WA, 98101, USA; Kaiser Permanente Washington Health Research Institute, Seattle, WA, 98101, USA.
Olli T RaitakariCentre for Population Health Research, University of Turku and Turku University Hospital, Turku, 20521, Finland; Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, Turku, 20521, Finland; Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Turku, 20521, Finland.
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, VA, 22903, USA.
Benjamin A T RodriguezThe Framingham Heart Study, National Heart, Lung and Blood Institute, Framingham, MA, 01702, USA; Population Sciences Branch, Division of Intramural Research, National Heart, Lung and Blood Institute, Framingham, MA, 01702, USA.
Jonathan D RosenDepartment of Biostatistics, University of North Carolina, Chapel Hill, NC, 27599, USA.
Jerome I RotterDepartment of Pediatrics, The Institute for Translational Genomics and Population Sciences, The Lundquist Institute for Biomedical Innovation (formerly Los Angeles Biomedical Research Institute) at Harbor-UCLA Medical Center, Torrance, CA, 90502, USA.
Petra SchubertMassachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, 02130, USA.
Cassandra N SpracklenDepartment of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA; Department of Biostatistics and Epidemiology, University of Massachusetts-Amherst, Amherst, MA, 01002, USA.
Praveen SurendranDepartment of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge, CB1 8RN, UK; Health Data Research UK Cambridge, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; Department of Public Health and Primary Care, Rutherford Fund Fellow, University of Cambridge, Cambridge, CB1 8RN, UK.
Hua TangDepartment of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA.
Jean-Claude TardifMontreal Heart Institute, Montreal, Quebec, H1T 1C8, Canada; Department of Medicine, Faculty of Medicine, Université de Montréal, Montreal, Quebec, H3T 1J4, Canada.
Mohsen GhanbariDepartment of Epidemiology, Erasmus University Medical Center Rotterdam, Rotterdam, 3015 GE, the Netherlands; Department of Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, 9177948564, Iran.
Uwe VölkerInterfaculty Institute of Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, 17475, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Greifswald, Greifswald, 17475, Germany.
Henry VölzkeInstitute for Community Medicine, University Medicine Greifswald, Greifswald, 17475, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Greifswald, Greifswald, 17475, Germany.
Nicholas A WatkinsNational Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, CB2 0PT, UK.
Stefan WeissInterfaculty Institute of Genetics and Functional Genomics, University Medicine Greifswald, Greifswald, 17475, Germany; German Center for Cardiovascular Research (DZHK), Partner Site Greifswald, Greifswald, 17475, Germany.
VA Million Veteran Program
Na CaiHuman Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Kousik KunduHuman Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, UK.
Stephen B WattHuman Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Klaudia WalterHuman Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Alan B ZondermanLaboratory of Epidemiology and Population Science, National Institute on Aging/NIH, Baltimore, MD, 21224, USA.
Kelly ChoMassachusetts Veterans Epidemiology Research and Information Center (MAVERIC), VA Boston Healthcare System, Boston, MA, 02130, USA; Department of Medicine, Division on Aging, Brigham and Women's Hospital, Boston, MA, 02115, USA; Department of Medicine, Harvard Medical School, Boston, MA, 02115, USA.
Yun LiDepartment of Biostatistics, University of North Carolina, Chapel Hill, NC, 27599, USA; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA; Department of Computer Science, University of North Carolina, Chapel Hill, NC, 27599, USA.
Ruth J F LoosIcahn School of Medicine at Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, New York, NY, 10029, USA.
Julian C KnightWellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.
Michel GeorgesUnit of Animal Genomics, GIGA-R & Faculty of Veterinary Medicine, University of Liège, Liège, B-4000, Belgium.
Oliver StegleEuropean Bioinformatics Institute, European Molecular Biology Laboratory, Hinxton, CB10 1SA, UK.
Evangelos EvangelouDepartment of Epidemiology and Biostatistics, Imperial College London, London, W2 1PG, UK; Department of Hygiene and Epidemiology, University of Ioannina Medical School, Ioannina, 45110, Greece.
Yukinori OkadaDepartment of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Osaka, 565-0871, Japan; Laboratory of Statistical Immunology, Osaka University Graduate School of Medicine, Suita, Osaka, 565-0871, Japan.
David J RobertsBRC Haematology Theme and Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DU, UK; NHSBT Blood and Transplant - Oxford Center, John Radcliffe Hospital, Oxford, OX3 9BQ, UK.
Michael InouyeDepartment of Public Health and Primary Care, Cambridge Baker Systems Genomics Initiative, University of Cambridge, Cambridge, CB1 8RN, UK; Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute, Melbourne, Victoria, VIC 3004, Australia; Department of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge, CB1 8RN, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge, CB2 0QQ, UK; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, CB10 1SA, UK; The Alan Turing Institute, London, NW1 2DB, UK.
Andrew D JohnsonThe Framingham Heart Study, National Heart, Lung and Blood Institute, Framingham, MA, 01702, USA; Population Sciences Branch, Division of Intramural Research, National Heart, Lung and Blood Institute, Framingham, MA, 01702, USA.
Paul L AuerZilber School of Public Health, University of Wisconsin-Milwaukee, Milwaukee, WI, 53201, USA.
William J AstleMRC Biostatistics Unit, University of Cambridge, Cambridge, CB2 0SR, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, CB2 0PT, UK.
Alexander P ReinerDepartment of Epidemiology, University of Washington, Seattle, WA, 98109, USA.
Adam S ButterworthDepartment of Public Health and Primary Care, British Heart Foundation Cardiovascular Epidemiology Unit, University of Cambridge, Cambridge, CB1 8RN, UK; Health Data Research UK Cambridge, Wellcome Genome Campus and University of Cambridge, Cambridge, CB10 1SA, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK; Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; National Institute for Health Research Cambridge Biomedical Research Centre, University of Cambridge and Cambridge University Hospitals, Cambridge, CB2 0QQ, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge, CB1 8RN, UK.
Willem H OuwehandDepartment of Haematology, University of Cambridge, Cambridge, CB2 0PT, UK; National Health Service (NHS) Blood and Transplant, Cambridge Biomedical Campus, Cambridge, CB2 0PT, UK; Human Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK; British Heart Foundation Centre of Research Excellence, University of Cambridge, Cambridge, CB1 8RN, UK.
Guillaume LettreMontreal Heart Institute, Montreal, Quebec, H1T 1C8, Canada; Department of Medicine, Faculty of Medicine, Université de Montréal, Montreal, Quebec, H3T 1J4, Canada.
Vijay G SankaranDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA. Electronic address: sankaran@broadinstitute.org.
Nicole SoranzoHuman Genetics, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK; National Institute for Health Research Blood and Transplant Research Unit (NIHR BTRU) in Donor Health and Genomics, University of Cambridge, Cambridge, CB1 8RN, UK; British Heart Foundation Centre of Excellence, Division of Cardiovascular Medicine, Addenbrooke's Hospital, Cambridge, CB2 0QQ, UK; Department of Haematology, University of Cambridge, Cambridge, CB2 0PT, UK. Electronic address: ns6@sanger.ac.uk.
University of Cambridge · GBWellcome Sanger Institute · GBUniversitätsmedizin Greifswald · DEUniversity of North Carolina at Chapel Hill · USBroad Institute · USUniversity of Copenhagen · DKIcahn School of Medicine at Mount Sinai · USMontreal Heart Institute · CANational Health Service · GBUniversity of Washington · USNational Heart Lung and Blood Institute · USNational Institute on Aging · USTampere University of Applied Sciences · FIUniversity of Ioannina · GRErasmus MC · NLKaiser Permanente · USRIKEN Center for Integrative Medical Sciences · JPTampere University · FIThe University of Tokyo · JPUniversity of Bristol · GB

Funding

CHARGE Consortium: Omics Discovery for CVD and Aging PhenotypesR01HL105756 · NHLBI · UNIVERSITY OF WASHINGTON · PI Bruce M Psaty, NICHOLAS L SMITH · 2011 to 2026
$9.5M
Rare variants and NHLBI traits in deeply phenotyped cohortsR01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2014 to 2016
$8.9M
CHS research resources for the cardiovascular health of older adultsU01HL130114 · NHLBI · UNIVERSITY OF WASHINGTON · PI BURKE, GREGORY L, KRONMAL, RICHARD A · 2016 to 2019
$6.6M
Rare variants and NHLBI traits in deeply phenotyped cohortsU01HL120393 · NHLBI · UNIVERSITY OF WASHINGTON · PI PSATY, BRUCE M, RICE, KENNETH M. · 2017 to 2018
$5.6M
From gene regions to whole chromosomes: scaling up association-finding for disease and omics outcomes in TOPMedU01HL137162 · NHLBI · UNIVERSITY OF WASHINGTON · PI RICE, KENNETH M. · 2017 to 2019
$1.6M
BLRD VA I01 BX004821Medical Research Council MR/R023484/1Medical Research Council MR/S019669/1National Centre for the Replacement, Refinement and Reduction of Animals in Research NC/P001076/1NHLBI NIH HHS R01 HL105756NHLBI NIH HHS R01 HL120393NHLBI NIH HHS U01 HL120393NHLBI NIH HHS U01 HL130114NHLBI NIH HHS U01 HL137162World Health Organization 001
6 · The paper itself

Abstract

Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering variants mediating the associations, and assess the polygenic prediction potential for blood traits and clinical disorders at the interface of complex and Mendelian genetics. These results show the power of large-scale blood cell trait GWAS to interrogate clinically meaningful variants across a wide allelic spectrum of human variation.

Indexed as

FemaleGene Regulatory NetworksGenetic Predisposition to DiseaseGenome-Wide Association StudyHematopoiesisHumansMaleMultifactorial InheritancePhenotypePolymorphism, Single Nucleotidebloodchromatinfine-mappinggeneticshematopoiesisomnigenicpolygenic riskrare diseasesplicingUK Biobank

Identifiers

PMID32888494
PMCPMC7482360
OpenAlexW3081528139

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.